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Korean Journal of Neuromuscular Disorders 2018;10(2):45-49.
Detection of Atrial Flutter and Anti-Centromere Antibody in a Patient with Dysferlinopathy
Sung-Yeon Sohn, Seok-Jin Choi, Je-Young Shin, Sung Hye Park, Jung-Joon Sung
1Department of Neurology, Eulji University Hospital, Daejeon; 2Department of Neurology, Inha University Hospital, Incheon; Departments of 3Neurology, 4Pathology, Seoul National University Hospital, Seoul, Korea
Dysferlin병증 환자에서 발견된 심방조동 및 항중심절항체
손성연, 최석진, 신제영, 박성혜, 성정준
을지대학교병원 신경과1, 인하대학교병원 신경과2, 서울대학교병원 신경과3, 병리과4
Abstract
Dysferlinopathy refers to myopathy due to defective dysferlin protein located in the sarcolemma. The major phenotypes include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. However,in recent years substantial symptomatic variations as well as some minor atypical phenotypes have increasingly been recognized. In this work, the authors detected concomitant atrial flutter and anti-centromere antibody in a biopsy-confirmed late onset dysferlinopathy patient. The authors also discuss cardiac manifestation of dysferlinopathy and the relationship between defective dysferlin and autoimmune processes in dysferlinopathy patients.
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